Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects
影响视网膜和肠道转录本的致病性STX3变异会导致微绒毛包涵体病患者出现早发性严重视网膜营养不良。
期刊:Human Genetics
影响因子:3.6
doi:10.1007/s00439-021-02284-1
Janecke, Andreas R; Liu, Xiaoqin; Adam, Rüdiger; Punuru, Sumanth; Viestenz, Arne; Strauß, Valeria; Laass, Martin; Sanchez, Elizabeth; Adachi, Roberto; Schatz, Martha P; Saboo, Ujwala S; Mittal, Naveen; Rohrschneider, Klaus; Escher, Johanna; Ganesh, Anuradha; Al Zuhaibi, Sana; Al Murshedi, Fathiya; AlSaleem, Badr; Alfadhel, Majid; Al Sinani, Siham; Alkuraya, Fowzan S; Huber, Lukas A; Müller, Thomas; Heidelberger, Ruth; Janz, Roger